Correction of knee deformity in patients with Ellis-van Creveld syndrome: A case report and review of the literature.

Abstract

Ellis-van Creveld Syndrome (EVC) is a rare autosomal recessive disorder. In 1940 Richard W. Ellis and Simon van Creveld first reported on a rare skeletal dysplasia, which to emphasize the main clinical characteristics, was termed "chondro-ectodermal dysplasia". The ectodermal involvement includes the skin, hair and nails while the chondrodysplastic characteristics involve the cartilage and bones, primarily in the forearms and lower legs. For the orthopaedic surgeon progressive valgus knee deformity accompanied by patella dislocation is the main problem in EVC. This study reports a ten year follow-up after a primarily failed operative therapy of knee deformity due to incomplete correction and the surgical technique utilized to correct the residual external torsional deformity and dislocation of the patella in a 19 year old girl who presented with the typical clinical features of Ellis-van Creveld Syndrome.